1 Matching Annotations
  1. Last 7 days
  2. Local file Local file
    Expanding the Mutation Spectrum Affecting &#x003B1;IIb&#x003B2;3 Integrin in Glanzmann Thrombasthenia: Screening of the <i>ITGA2B</i> and <i>ITGB3</i> Genes in a Large International Cohort
    1
    1. ClingenBaseline 25 Oct 2026

      Supplementary Table S1 & S2 Proband and Variant Information:

      Case71: GT75, Female, 9 years old, French/African

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0031364, HP:0000421, HP:0000225

      (Ecchymosis, epistaxis, gingival bleeding)

      CaseHPOFreeText: Lots of deciduous teeth with bleeding, hematomas in the eye and under the clavicle

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: Flow cytometry showed less than 5% αIIbβ3 (See Supplementary Table 1)

      PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

      CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

      Gene: ITGA2B

      Variant: NM_000419.3:c.*165T>C

      LegacyVariant: N/A

      ClinVar: N/A

      CAiD: CA915940530

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:3'UTR Zygosity:Homozygous CAiD:CA915940530 PreviousTesting:Full ProteinExpression:Reported PlateletAggregation:Reported SupplementalData inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

    Tags

    Annotators